A Hope for Better Future

SSADH deficiency is inherited as an autosomal recessive trait. Thus, two parents who are carriers have a 25% chance of producing children with this disease.

In our case, two of our four daughters developed it.

Wave of Hope - SSADH

A Neurotransmitter Disease

SSADH is a Neurotransmitter disease. Neurotransmitters are chemicals released during a nerve impulse to either excite or inhibit nerve function. There are many neurotransmitters in the body, all of which work together to regulate

  • Motor coordination
  • Behavior
  • Temperature
  • Pain mechanisms
  • Blood flow

Errors in metabolism affect the central nervous system.

A Rare Metabolic Disorder

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) is a rare metabolic disorder characterized by lack of the enzyme involved in the degradation of GABA, the major inhibitory neurotransmitter in the brain.

GABA controls the movements of humans, and when it is imbalanced, major neurologic abnormalities occur. In SSADH deficiency, neurotransmitters are blocked from signaling one another correctly.

Due to the enzyme deficiency, an unusual compound gets accumulated in the body called GHB, which interferes with the patient's ability to walk, speak, concentrate and process information in the brain.

Wave of Hope - SSADH
  • Common Manifestations
  • Delayed gross motor development
  • Delayed mental development
  • Delayed fine motor skill development
  • Delayed speech and language development
  • Hypotonia


  • Seizures
  • Hyporeflexia
  • Ataxia
  • Behavioral problems
  • Hyperkinesis

Frequent Manifestations


Treatments have included

  • Lamotrigine
  • NCS- 382
  • Vigabatrin 
  • Taurine



Further Information

Visit the SSADH Association website at  www.ssadh.net/